Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02152:Chrm5'

282049

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Chrm5

Ensembl Gene

ENSMUSG00000074939

Gene Name

cholinergic receptor, muscarinic 5

Synonyms

muscarinic acetylcholine receptor 5, M5R

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

IGL02152

Quality Score

Status

Chromosome

Chromosomal Location

112309516-112311114 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112310913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 68 (Y68H)

Ref Sequence

ENSEMBL: ENSMUSP00000097185 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099589]

AlphaFold

Q920H4

Predicted Effect

probably damaging
Transcript: ENSMUST00000099589
AA Change: Y68H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097185
Gene: ENSMUSG00000074939
AA Change: Y68H

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	38	242	2.3e-8	PFAM
Pfam:7TM_GPCR_Srsx	41	253	7.5e-8	PFAM
Pfam:7tm_1	47	495	1.5e-79	PFAM
low complexity region	507	518	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The clinical implications of this receptor are unknown; however, stimulation of this receptor is known to increase cyclic AMP levels. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null allele exhibit loss of acetylcholine-induced dilation of cerebral arteries, decreased pilocarpine-induced salivation, increased water-deprivation induced drinking, and attenuated morphine reinforcement and withdrawal. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted, knock-out(3)

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	G	5: 107,695,983 (GRCm39)	T140A	probably benign	Het
4933430I17Rik	T	C	4: 62,460,991 (GRCm39)	Y289H	possibly damaging	Het
Adamts17	T	A	7: 66,774,748 (GRCm39)	S956T	probably benign	Het
Adamts6	A	T	13: 104,450,168 (GRCm39)	S290C	probably null	Het
Apaf1	A	T	10: 90,897,681 (GRCm39)	H267Q	probably benign	Het
Aplp2	G	A	9: 31,122,947 (GRCm39)	P26L	unknown	Het
Arid1b	C	T	17: 5,364,243 (GRCm39)	S1019F	probably damaging	Het
Armc3	G	A	2: 19,290,948 (GRCm39)		probably null	Het
Ass1	T	C	2: 31,382,336 (GRCm39)	I169T	probably damaging	Het
Ccser1	A	G	6: 61,288,692 (GRCm39)	D285G	possibly damaging	Het
Cenpf	A	G	1: 189,381,209 (GRCm39)	V2737A	probably benign	Het
Cops4	A	G	5: 100,681,456 (GRCm39)	T164A	probably benign	Het
Cox4i1	A	G	8: 121,399,604 (GRCm39)	S72G	probably benign	Het
Cpox	A	G	16: 58,494,787 (GRCm39)	T275A	possibly damaging	Het
Cyb5a	T	C	18: 84,891,281 (GRCm39)	I68T	probably benign	Het
Efna5	T	C	17: 62,958,055 (GRCm39)	D67G	probably benign	Het
Enpp3	T	C	10: 24,649,900 (GRCm39)	E842G	probably damaging	Het
Fam210b	A	G	2: 172,193,423 (GRCm39)	K79E	probably benign	Het
Gm4799	T	C	10: 82,790,589 (GRCm39)		noncoding transcript	Het
Gpr146	A	T	5: 139,378,467 (GRCm39)	R90W	probably damaging	Het
H2ac10	A	G	13: 23,718,451 (GRCm39)	H124R	probably benign	Het
Hal	A	G	10: 93,339,404 (GRCm39)	I498V	possibly damaging	Het
Hnrnpm	C	T	17: 33,877,386 (GRCm39)	G365R	probably damaging	Het
Jakmip3	A	G	7: 138,627,217 (GRCm39)	D407G	probably damaging	Het
Kank1	A	G	19: 25,405,536 (GRCm39)	I1185V	possibly damaging	Het
Kcnj16	A	T	11: 110,916,036 (GRCm39)	M233L	probably benign	Het
Klhl5	A	T	5: 65,306,143 (GRCm39)	Q370L	probably damaging	Het
L3hypdh	C	T	12: 72,123,917 (GRCm39)		probably null	Het
Las1l	A	G	X: 94,996,908 (GRCm39)	V130A	probably damaging	Het
Liat1	A	G	11: 75,894,051 (GRCm39)	I143V	probably benign	Het
Lrp2bp	A	T	8: 46,476,081 (GRCm39)	Y274F	probably damaging	Het
Morc2b	T	A	17: 33,356,917 (GRCm39)	K285M	probably damaging	Het
Mpp3	A	T	11: 101,916,216 (GRCm39)	Y45*	probably null	Het
Muc4	T	A	16: 32,598,023 (GRCm39)		probably benign	Het
Muc5ac	T	C	7: 141,353,914 (GRCm39)	C837R	possibly damaging	Het
Nr2f6	T	A	8: 71,828,810 (GRCm39)	I155F	probably damaging	Het
Nsg1	A	G	5: 38,302,145 (GRCm39)	F50L	probably benign	Het
Or14a258	T	A	7: 86,035,251 (GRCm39)	M206L	probably benign	Het
Ostf1	C	A	19: 18,567,822 (GRCm39)	G101C	probably damaging	Het
Pam	C	T	1: 97,768,474 (GRCm39)	R552Q	probably damaging	Het
Pkd1l3	A	G	8: 110,395,924 (GRCm39)	N2108S	probably damaging	Het
Prkdc	A	T	16: 15,487,149 (GRCm39)	H484L	probably benign	Het
Pwwp3a	A	G	10: 80,075,812 (GRCm39)	D466G	probably damaging	Het
Rfx5	G	A	3: 94,864,493 (GRCm39)	R213Q	probably damaging	Het
Ryr1	T	C	7: 28,751,440 (GRCm39)	S3715G	possibly damaging	Het
Sall2	A	G	14: 52,552,971 (GRCm39)	S73P	probably damaging	Het
Sec22c	G	A	9: 121,513,845 (GRCm39)	A264V	probably benign	Het
Sis	A	C	3: 72,796,319 (GRCm39)		probably benign	Het
Spam1	T	A	6: 24,800,802 (GRCm39)		probably benign	Het
Spmip2	T	C	3: 79,252,839 (GRCm39)	I18T	possibly damaging	Het
St13	T	A	15: 81,250,583 (GRCm39)	I318F	probably damaging	Het
Syne1	T	C	10: 5,374,382 (GRCm39)	I142V	probably damaging	Het
Tasor2	C	T	13: 3,635,371 (GRCm39)	E479K	probably benign	Het
Trpm6	A	T	19: 18,809,903 (GRCm39)	T1100S	possibly damaging	Het
Ttll6	G	A	11: 96,026,366 (GRCm39)	W90*	probably null	Het
Txndc12	T	A	4: 108,691,989 (GRCm39)	C9*	probably null	Het
Ubr7	C	T	12: 102,734,535 (GRCm39)	Q270*	probably null	Het
Vps33b	A	G	7: 79,934,817 (GRCm39)	S302G	probably benign	Het
Xylt1	T	A	7: 117,233,997 (GRCm39)	V508E	probably damaging	Het
Zbtb26	A	T	2: 37,326,703 (GRCm39)	L111Q	possibly damaging	Het
Zfp410	T	C	12: 84,379,702 (GRCm39)		probably benign	Het
Zscan18	A	T	7: 12,509,223 (GRCm39)		probably benign	Het

Other mutations in Chrm5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01532:Chrm5	APN	2	112,309,577 (GRCm39)	missense	probably benign
IGL01611:Chrm5	APN	2	112,310,651 (GRCm39)	nonsense	probably null
IGL03002:Chrm5	APN	2	112,310,706 (GRCm39)	missense	probably damaging	1.00
C9142:Chrm5	UTSW	2	112,310,556 (GRCm39)	missense	probably damaging	1.00
R0200:Chrm5	UTSW	2	112,311,065 (GRCm39)	missense	probably benign
R0432:Chrm5	UTSW	2	112,310,000 (GRCm39)	missense	possibly damaging	0.76
R1158:Chrm5	UTSW	2	112,310,214 (GRCm39)	missense	probably benign	0.00
R1611:Chrm5	UTSW	2	112,309,532 (GRCm39)	missense	possibly damaging	0.74
R1621:Chrm5	UTSW	2	112,310,182 (GRCm39)	missense	probably benign	0.00
R1693:Chrm5	UTSW	2	112,309,625 (GRCm39)	missense	probably damaging	1.00
R1988:Chrm5	UTSW	2	112,310,597 (GRCm39)	missense	probably damaging	0.99
R1989:Chrm5	UTSW	2	112,310,597 (GRCm39)	missense	probably damaging	0.99
R2071:Chrm5	UTSW	2	112,309,572 (GRCm39)	missense	probably null	0.93
R2890:Chrm5	UTSW	2	112,310,048 (GRCm39)	missense	probably benign	0.00
R4659:Chrm5	UTSW	2	112,310,102 (GRCm39)	missense	probably benign
R4785:Chrm5	UTSW	2	112,309,930 (GRCm39)	missense	probably benign	0.25
R5196:Chrm5	UTSW	2	112,310,729 (GRCm39)	missense	probably damaging	1.00
R5734:Chrm5	UTSW	2	112,310,445 (GRCm39)	missense	probably benign	0.28
R6343:Chrm5	UTSW	2	112,309,793 (GRCm39)	missense	probably damaging	1.00
R6499:Chrm5	UTSW	2	112,310,825 (GRCm39)	missense	probably benign
R6672:Chrm5	UTSW	2	112,310,141 (GRCm39)	missense	probably benign
R6905:Chrm5	UTSW	2	112,309,901 (GRCm39)	missense	probably benign	0.00
R7192:Chrm5	UTSW	2	112,310,672 (GRCm39)	missense	probably damaging	0.97
R7775:Chrm5	UTSW	2	112,310,301 (GRCm39)	missense	probably benign	0.07
R7778:Chrm5	UTSW	2	112,310,301 (GRCm39)	missense	probably benign	0.07
R8780:Chrm5	UTSW	2	112,310,453 (GRCm39)	missense	possibly damaging	0.64
R9287:Chrm5	UTSW	2	112,309,610 (GRCm39)	missense	probably damaging	1.00
R9436:Chrm5	UTSW	2	112,309,824 (GRCm39)	missense	possibly damaging	0.69
R9502:Chrm5	UTSW	2	112,311,040 (GRCm39)	missense	probably damaging	1.00
X0023:Chrm5	UTSW	2	112,310,826 (GRCm39)	missense	probably benign

Posted On

2015-04-16